Epsilon-Sarcoglycan (SGCE) Human Recombinant Protein

This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]

SGCE: Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. Defects in SGCE are a cause of dystonia type 11 (DYT11); also known as myoclonic dystonia or alcohol- responsive dystonia. DYT11 is a myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable. Belongs to the sarcoglycan alpha/epsilon family.

Protein type: Cell adhesion; Membrane protein, integral

Chromosomal Location of Human Ortholog: 7q21.3

Cellular Component: dystrophin-associated glycoprotein complex; Golgi apparatus; cytoskeleton; integral to plasma membrane; dendrite; plasma membrane; sarcoglycan complex; sarcolemma

Molecular Function: calcium ion binding

Biological Process: muscle development; cell-matrix adhesion

Disease: Myoclonic Dystonia